Rare Mitochondrial Variant Discovered (Human Mutation)

Photo: A woman swabs her cheek to collect a DNA sample

The Genographic Project today released an updated version of its public participation mitochondrial DNA (mtDNA) database. Included is a previously undiscovered mtDNA sequence with a 154-nucleotide deletion, constituting nearly one percent of the total mtDNA genome. The unprecedented size and scope of the database allowed Genographic scientists led by Genographic associate researcher Doron Behar, based at Rambam Medical Center, Haifa, and Spencer Wells, Genographic Project director, to identify this rare variant.